Incidental Mutation 'R7463:Racgap1'
| ID |
578585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Racgap1
|
| Ensembl Gene |
ENSMUSG00000023015 |
| Gene Name |
Rac GTPase-activating protein 1 |
| Synonyms |
gtl11, MgcRacGAP, GTPase, Band25 |
| MMRRC Submission |
045537-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7463 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99518377-99549504 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 99540839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 4
(T4S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023756]
[ENSMUST00000109581]
[ENSMUST00000164983]
[ENSMUST00000165730]
[ENSMUST00000168065]
[ENSMUST00000169810]
[ENSMUST00000171702]
[ENSMUST00000171908]
|
| AlphaFold |
Q9WVM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023756
AA Change: T4S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023756
Gene: ENSMUSG00000023015
AA Change: T4S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
35 |
110 |
N/A |
INTRINSIC |
|
C1
|
288 |
336 |
2.44e-5 |
SMART |
|
RhoGAP
|
361 |
537 |
3.4e-51 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109581
AA Change: T4S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000164983
AA Change: T4S
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000165730
AA Change: T4S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168065
|
| SMART Domains |
Protein: ENSMUSP00000132732
Gene: ENSMUSG00000023015
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
6 |
81 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169810
AA Change: T4S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130876
Gene: ENSMUSG00000023015
AA Change: T4S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
35 |
110 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171702
AA Change: T4S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126417
Gene: ENSMUSG00000023015
AA Change: T4S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
35 |
110 |
N/A |
INTRINSIC |
|
C1
|
288 |
336 |
2.44e-5 |
SMART |
|
RhoGAP
|
361 |
537 |
3.4e-51 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171908
AA Change: T4S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128892
Gene: ENSMUSG00000023015
AA Change: T4S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
35 |
110 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This protein plays a regulatory role in cytokinesis, cell growth, and differentiation. Alternatively spliced transcript variants have been found for this gene. There is a pseudogene for this gene on chromosome 12. [provided by RefSeq, Feb 2016]
PHENOTYPE: Embryos homozygous for a gene-trapped allele exhibit pre-implantation lethality associated with the formation of multinucleated blastomeres and failure to complete cytokinesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,634,698 (GRCm39) |
V435E |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,878,399 (GRCm39) |
D413G |
probably damaging |
Het |
| Adgrg6 |
T |
A |
10: 14,310,140 (GRCm39) |
D727V |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,583,452 (GRCm39) |
Q309* |
probably null |
Het |
| Amy1 |
A |
T |
3: 113,363,533 (GRCm39) |
C43* |
probably null |
Het |
| Bpifc |
T |
C |
10: 85,815,198 (GRCm39) |
E256G |
probably benign |
Het |
| Bysl |
A |
T |
17: 47,913,396 (GRCm39) |
S296T |
probably benign |
Het |
| Carmil3 |
C |
T |
14: 55,739,853 (GRCm39) |
P980L |
probably damaging |
Het |
| Coch |
T |
A |
12: 51,640,408 (GRCm39) |
M1K |
probably null |
Het |
| Cpt2 |
A |
T |
4: 107,765,354 (GRCm39) |
F137I |
probably damaging |
Het |
| Crem |
T |
C |
18: 3,295,094 (GRCm39) |
I112V |
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,831,402 (GRCm39) |
|
probably null |
Het |
| Cyp3a41a |
T |
A |
5: 145,650,374 (GRCm39) |
I90F |
probably damaging |
Het |
| Cyp4f16 |
C |
T |
17: 32,769,761 (GRCm39) |
A457V |
possibly damaging |
Het |
| Ddx6 |
A |
G |
9: 44,540,026 (GRCm39) |
E318G |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,052,038 (GRCm39) |
E213G |
probably benign |
Het |
| Dlx5 |
T |
C |
6: 6,878,316 (GRCm39) |
H238R |
probably damaging |
Het |
| Dnai2 |
A |
C |
11: 114,645,232 (GRCm39) |
I556L |
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,823,521 (GRCm39) |
V1147M |
possibly damaging |
Het |
| Egf |
G |
T |
3: 129,533,664 (GRCm39) |
Q59K |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,623,662 (GRCm39) |
Y109* |
probably null |
Het |
| Fer1l6 |
T |
A |
15: 58,445,450 (GRCm39) |
Y573* |
probably null |
Het |
| Fmnl1 |
T |
C |
11: 103,083,954 (GRCm39) |
L503P |
probably damaging |
Het |
| Gnptab |
T |
G |
10: 88,267,251 (GRCm39) |
I447M |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,783,448 (GRCm39) |
D253N |
probably benign |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,929,532 (GRCm39) |
T958A |
probably benign |
Het |
| Kcnd2 |
T |
A |
6: 21,216,497 (GRCm39) |
L67Q |
probably damaging |
Het |
| Kif5a |
A |
G |
10: 127,079,593 (GRCm39) |
V248A |
probably damaging |
Het |
| Krt33b |
A |
G |
11: 99,920,389 (GRCm39) |
I88T |
probably damaging |
Het |
| Lhx2 |
G |
A |
2: 38,241,858 (GRCm39) |
E25K |
possibly damaging |
Het |
| Mex3d |
C |
T |
10: 80,217,532 (GRCm39) |
G562R |
|
Het |
| Myom2 |
A |
T |
8: 15,167,679 (GRCm39) |
Y1088F |
probably null |
Het |
| Ncapg |
T |
A |
5: 45,851,434 (GRCm39) |
|
probably null |
Het |
| Nudc |
A |
C |
4: 133,261,714 (GRCm39) |
V190G |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 59,013,686 (GRCm39) |
R1054S |
probably benign |
Het |
| Or10g1 |
A |
G |
14: 52,648,168 (GRCm39) |
W54R |
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,860 (GRCm39) |
V221A |
probably benign |
Het |
| Or2d4 |
A |
T |
7: 106,543,380 (GRCm39) |
V276E |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,689 (GRCm39) |
S188P |
possibly damaging |
Het |
| Or56a5 |
T |
A |
7: 104,793,144 (GRCm39) |
M119L |
probably benign |
Het |
| Or8j3 |
T |
C |
2: 86,028,182 (GRCm39) |
M305V |
probably benign |
Het |
| Pcdh10 |
A |
T |
3: 45,338,007 (GRCm39) |
R891S |
possibly damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,467,602 (GRCm39) |
S1873L |
possibly damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,878,340 (GRCm39) |
K632E |
probably benign |
Het |
| Pcdhgb8 |
G |
A |
18: 37,896,480 (GRCm39) |
A517T |
probably damaging |
Het |
| Ptgr2 |
A |
T |
12: 84,339,072 (GRCm39) |
|
probably benign |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,404 (GRCm39) |
H941R |
probably benign |
Het |
| Reln |
T |
C |
5: 22,308,433 (GRCm39) |
H312R |
probably damaging |
Het |
| Rnf166 |
T |
A |
8: 123,194,726 (GRCm39) |
H208L |
probably damaging |
Het |
| Spmap2 |
T |
C |
10: 79,412,549 (GRCm39) |
E314G |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,086,295 (GRCm39) |
S999P |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Tor1aip1 |
A |
T |
1: 155,883,355 (GRCm39) |
H349Q |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,750,804 (GRCm39) |
E3415V |
probably benign |
Het |
| Vmn2r102 |
A |
T |
17: 19,896,886 (GRCm39) |
N78Y |
probably damaging |
Het |
| Wdr11 |
A |
T |
7: 129,208,810 (GRCm39) |
D427V |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 30,003,449 (GRCm39) |
|
probably benign |
Het |
| Zfp516 |
T |
A |
18: 82,975,233 (GRCm39) |
M477K |
probably benign |
Het |
|
| Other mutations in Racgap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Racgap1
|
APN |
15 |
99,534,003 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01450:Racgap1
|
APN |
15 |
99,524,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01907:Racgap1
|
APN |
15 |
99,524,214 (GRCm39) |
nonsense |
probably null |
|
|
IGL02584:Racgap1
|
APN |
15 |
99,521,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02733:Racgap1
|
APN |
15 |
99,537,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03137:Racgap1
|
APN |
15 |
99,526,622 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03145:Racgap1
|
APN |
15 |
99,521,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02799:Racgap1
|
UTSW |
15 |
99,530,628 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0106:Racgap1
|
UTSW |
15 |
99,540,839 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0106:Racgap1
|
UTSW |
15 |
99,540,839 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0140:Racgap1
|
UTSW |
15 |
99,521,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0398:Racgap1
|
UTSW |
15 |
99,526,508 (GRCm39) |
splice site |
probably benign |
|
|
R0496:Racgap1
|
UTSW |
15 |
99,537,713 (GRCm39) |
splice site |
probably benign |
|
|
R0528:Racgap1
|
UTSW |
15 |
99,526,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0893:Racgap1
|
UTSW |
15 |
99,524,411 (GRCm39) |
missense |
probably benign |
|
|
R0947:Racgap1
|
UTSW |
15 |
99,522,195 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1348:Racgap1
|
UTSW |
15 |
99,524,246 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1470:Racgap1
|
UTSW |
15 |
99,537,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1470:Racgap1
|
UTSW |
15 |
99,537,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1720:Racgap1
|
UTSW |
15 |
99,526,650 (GRCm39) |
nonsense |
probably null |
|
|
R2235:Racgap1
|
UTSW |
15 |
99,524,417 (GRCm39) |
missense |
probably benign |
|
|
R3624:Racgap1
|
UTSW |
15 |
99,540,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4621:Racgap1
|
UTSW |
15 |
99,524,087 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4622:Racgap1
|
UTSW |
15 |
99,524,087 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4623:Racgap1
|
UTSW |
15 |
99,524,087 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5046:Racgap1
|
UTSW |
15 |
99,526,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5899:Racgap1
|
UTSW |
15 |
99,521,509 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6306:Racgap1
|
UTSW |
15 |
99,521,834 (GRCm39) |
missense |
probably benign |
|
|
R6513:Racgap1
|
UTSW |
15 |
99,522,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6618:Racgap1
|
UTSW |
15 |
99,521,875 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6953:Racgap1
|
UTSW |
15 |
99,524,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7359:Racgap1
|
UTSW |
15 |
99,529,081 (GRCm39) |
missense |
probably benign |
|
|
R8292:Racgap1
|
UTSW |
15 |
99,520,127 (GRCm39) |
nonsense |
probably null |
|
|
R8883:Racgap1
|
UTSW |
15 |
99,526,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9227:Racgap1
|
UTSW |
15 |
99,534,078 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCCATAAGCAGCCATC -3'
(R):5'- GATCACGAAGAATTGTCGGC -3'
Sequencing Primer
(F):5'- AGCTTTTGGACTGCAACACG -3'
(R):5'- AAGAATTGTCGGCGTGAGATTCTTAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation